Lesch Nyhan syndrome

Common Name(s)

Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.

Advocacy and Support Organizations

Condition Specific Organizations

Pediatric Brain Foundation's Mission is Three-fold:
1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder
2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology
3. Educate the public and public officials on the critical importance of funding pediatric neurological research

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Lesch Nyhan syndrome" for support, advocacy or research.

Pediatric Brain Foundation's Mission is Three-fold:
1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder
2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology
3. Educate the public and public officials on the critical importance of funding pediatric neurological research

General Support Organizations

Recommended Apps

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Lesch Nyhan syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lesch Nyhan syndrome" returned 36 free, full-text research articles on human participants.
First 3 results:

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded by the HPRT1 gene. The classic disease phenotype described by Lesch and Nyhan in 1964 includes hyperuricemia, mental retardation, ...

Lesch-Nyhan syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). A series of motor, cognitive and neurobehavioral anomalies characterize this disease phenotype, which ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lesch Nyhan syndrome" returned 3 free, full-text review articles on human participants.
First 3 results:

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence ...

We have reviewed the treatments employed to alleviate the different manifestations of the Lesch Nyhan syndrome, the adverse reactions related to these treatments, and the prospectives of future therapeutic approaches now under active research.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Lesch Nyhan syndrome" (open studies are recruiting volunteers) and 4 "Lesch Nyhan syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Lesch Nyhan syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.